Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing

Clinical Case Reports

Alexandra Coromilas²  Julia Wynn²  Eden Haverfield¹ 

[1] GeneDx, Gaithersburg, MD;Columbia University Medical Center, New York, New York

关键词: Fetal imaging;    genetic counseling;    Noonan syndrome;    PTPN11;    single gene disorders;    whole exome sequencing;   

DOI  :  10.1002/ccr3.205

来源: Wiley

【 摘 要 】

Key Clinical Message

Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would not have been made from phenotype alone.

【 授权许可】

CC BY-NC-ND   
© 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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